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In this essay, David Epstein explores how a woman whose muscles disappeared discovered she shared a disease with a muscle-bound Olympic medalist. Shortly after the story ran, biotech companies in the U.S. and the U.K. contacted Jill with offers to study huge portions of her genome for free, and to do the same for her affected family members, as well as for Priscilla.“While they don't believe they've found a smoking gun,' Jill says, “they have identified two potential genes of interest' that may help explain why family members with the same disease can be so differently impacted.
It is the dream of many rare disease patients to have a scientist orient his research agenda around them - but how realistic is this? Is it a good use of the patient or the scientist's time? How will these kinds of interactions change medical research in the future?
Write your response in a comment to this page.
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Olive Hager
It’s very lucky that this patient was actually listened to, having no formal medical training. She was even luckier to pinpoint not one, but two mutated genes she carried. She did spend a great deal of time obsessing over it, which in any case is an unhealthy amount of time spent on something. If a patient does choose to focus their energy researching their condition, though, their doctor should at least hear them out. Especially in America where it’s a private service that the patient is paying for. If they really believe they have something and are willing to pay for the testing, then they should absolutely be given the care they request. When patients have a good relationship with their doctors, they may be more likely to share more information with their doctors about their symptoms and things we may not know to be symptoms yet, like the essay mentioned about the forum for people with Norrie.
Seth Packer
You’re right, the least believable part of this story wasn’t that she correctly diagnosed two incredibly rare diseases; it’s that she was actually taken seriously by a doctor. Meh, define unhealthy; it was something that was was interested in and passionate about, I only wish I could find something I was so taken by…. that wasn’t video games.
Olive Hager
Life is all about balance, too much of anything isn’t good for you.
Briana Shaffer
I think the doctors in the U.S. are sometimes too overwhelmed or prideful to let someone without a large amount of student debt and college hours tell them how to do their job. After I injured my spine, the PA refused to treat me for anything other than muscle spasms. Frustrated, I did days worth of research into my symptoms and potential causes and narrowed it down to nerve pain and issues from budged disk. After about six months of fighting for an MRI that was refused by the PA because it was “too expensive”, I finally got approved for one after going behind my PA’s back and seeing a different unit’s PA. The MRI and X-rays found a bulged disk, degenerative disk disease, and arthritis. I got diagnosed shortly after and medically discharged. Now dealing with the VA, the doctors sometimes see up to 200 patients a week and from what I have been told a small percentage of the patients are there suffering while a larger number are looking for a way to increase their ratings. It sounds frustrating and overwhelming. The doctors pretty much have their hands tied in cases where they are unsure. One wrong move and they could lose their license.
Seth Packer
How realistic? Not very, and through no fault of scientists or patients. Scientists often do not have the time, means, or skills required for outreach into communities, mostly because that’s the job of politicians, not researchers. So it’s not surprising that patients and researchers do not often meet up, especially when you consider that patients have their own lives, and often their own jobs to keep them busy day and night. Even if there was an out reach program, most patients could only relay anecdotal evidence; this evidence may lead researchers down false leads or may just be unhelpful, once again, through no fault of the patient. Jill’s case was special however, she had researched her condition to the point of expertise, she knew far more about her condition than the average patient and thus was able to understand better what was related to her condition and how to relay the information to researchers in a useful way. Thus it was less a patient to scientist relationship, and more of a grad student to scientist. In summary, yes, it’s a good use of both party’s time, but only if the researcher is willing to hear out the patient, and the patient has done sufficient research to be considered reliable.
In the future perhaps it will be easier for patients with rare diseases to get in contact with experts. But, I honestly don’t expect any major trends to emerge fro this case.
Miranda Jackovich
I thought you made valid points of how realist the relationship between patients and scientist are. With todays technology I believe it will be easier to bring their relationship closer. It’s also necessary for scientist to share their work on platforms in order to receive feed back and recognition of their work. Including receiving support and funding for their efforts. Regardless I see more benefits sharing experiences and knowledge. Great ideas!
Olive Hager
It’s hard to establish that kind of credibility without a formal degree backing it up. It’s pretty remarkable this patient’s ideas weren’t just swept under the rug.
Briana Shaffer
In my opinion, it is sad that Jill had been rejected by many doctors and specialists. Most people would have reacted to that with giving up, but Jill took it upon herself to do research and reach out to specialists herself. I think that that motivation and dedication to her specific issue is what some scientists and doctors lose after working for a while. Passion drove Jill’s curiosity and ultimately led to her discovering something you would expect a grad student to do. It isn’t realistic to have a team of researchers and scientists focus on just one condition that affects a very small set of the population, and on the other hand I feel like cases like Jill may not be “the smoking gun” but they could foster new ideas and insights. At least now, the effects of Jill’s “typo” and the “neighbor typo” in Priscilla’s genetic makeup can go in the books for future reference. If anything this article highlights how much of a home grown expert one can become with just a library, time and the Google.
Jerry Carroll
I do agree that it was sad that she was not listened to by the doctors.
Olive Hager
It’s somewhat understandable though, I’m sure many patients with rare diseases don’t spend enough time researching or maybe follow the wrong lead on what they believe they might have. This could potentially lead to wasting time and resources.
Lindsey Paulsen
To have a mysterious illness and to be rejected by so many doctors would be heartbreaking, but I agree that pouring money into this research is unrealistic. Her motivation and dedication did indeed show passion and hope.
Jerry Carroll
I would say that it is a great use of the patient’s time, they are looking into their own health and learning about themselves. Her persistence of learning more helped prolong the lives of two people. I would also say that maybe doctors should listen a little more, it seems like it was actual scientists who listened more and diagnosed them.
Christina Beaver
I agree I think its a great use of the patients time if they are learning about their disease and prolong life. Doctors should be listening to patients; ultimately they are the ones living with the disease. Although I could also see where the doctors are coming from as well, we all know someone who thinks they have every condition known to mankind.
Jessica Hernandez
I totally agree with all your saying. Do you think it would help with the future of other patients? What is the possibility that it is a waste of time?
Great post.
Christina Beaver
Is it realistic? I don’t think so. I think if the patient is anything like Jill, I don’t think it would be too much of a waste of time. She is so motivated to help so that future generations have a better outcome that I think it would excite her. As for the scientist, I think it would kinds have to be the same if that scientist doesn’t have a passion for this then why devote all your time to the patient like that. But if does happen it can improve medication and treatment options in the future.
Miranda Jackovich
It’s crucial to have these kinds of relationships between patients and scientist for the benefit of both. Many scientist conduct research that unfortunately becomes information vs solutions. Patients live with issues that the scientist’s research could be put to use. In Epstein’s piece, ‘The DIY Scientist, The Olympian, and the Mutated Gene’ he shares Jill Viles story and how she was able to open an avenue of treatment with a biologist. “Since Jill first contacted him, he has learned that lamin proteins-which the body creates using instructions from the lamin gene-can interact with SREBP1.†(Epstein 221) Due to Jill’s experiences she was able to help the scientist with his data, including the progress of her diagnoses. Interactions like this can make huge changes not only in the scientific field but also making people’s lives better.
Conall Birkholz
Great contribution! I also think it is critical to identify the difference between research that is “informational” and research that actually provides solutions to peoples problems. When collaborations like the one in this article happen I think solutions are more likely to be the outcome.
Conall Birkholz
Being born with a rare disease that only has had a select few recognized cases and is not well known or researched in medical history is tragic. I think it is altruistic that Jill dedicated so much of her time to researching her own condition and contributing to the scientific knowledge base about it, which in effect ended up benefiting other people with her condition or similar condition like Priscilla.
Sadly, I don’t think it is realistic to have scientists focus their work on such rare conditions, as there is other work that they can do that will benefit more people. This is why it is significant to the science community if patients with rare conditions have the intellect to research their own conditions and contribute theories and solutions to their problems that scientists can analyze and give feedback on, and potentially take the research farther. A patient dedicating their time to studying their condition I think can be considered both good or bad. Personally, I think it is a good use of their time if they are capable because it increases the medical human knowledge more which is never a bad thing. On the contrary like I noted earlier, I don’t think it is usually the best use of a scientist’s time as there is usually more crucial work they could be working on that would help more people.
These interactions between intelligent patients and scientists I think are very beneficial in the aspect of continuing the pursuit of increasing scientific knowledge no matter what the discipline is. Into the future, I hope scientists will consider collaborations like this beneficial as in this case it did lead to new discoveries.
Briana Shaffer
I agree as well. As harsh as it seems, time and resources should be spent on conditions that devastate large groups of people. Rare conditions do deserve time and effort, but not on a large scale.
Rebekah Ulrich
This particular story was quite fascinating, Jill was extremely to fortunate to not only self diagnosis herself but her father and Priscilla. Unfortunately it is not realistic to think that a medical professional of any type would orientate his/her research agenda around them. Jill was an exceptional case and she has herself to thank for that. She was persistent on getting results and did not let hope go even when she was shot down numerous times. It can be either good or bad to the person with the disease to self indulge themselves into research. It is good because they are helping themselves become self aware and learn more about it but then it can be overwhelming and cause unnecessary stress and anxiety which is what Jill experienced eventually when she focused on nothing else but the research.
Jill was so fascinated by her disease and because she dove into the research she was able to discover so much more, not only for her benefit but for others as well that share the same type of gene. It helped medical professionals realize that it was so much more than they thought, under unfortunate circumstances does discoveries like this ever become known. Most doctors do not listen when someone self diagnosis themselves and of course we do not have the knowledge of medical background as they do. Because Jill was so persistent on getting results she made them listen. Because they listened, the outcome became groundbreaking results for future research.
Travis Winterton
While not everybody with a rare disease could potentially get the same treatment and attention like Jill, I think there are still ways to have an open dialogue and discussions about rare and uncommon disease and abnormalities that alone could help contribute to better understanding about these diseases, even if its not fully backed by major scientific research.
Jessica Hernandez
I believe this is realistic, the patient is finding a way to better the future for other people, as well and finding answers about herself. I believe this could possibly be a waste of time but it could also be useful. It could waste time since there are only two people in the world that carry the gene and it could never be seen again. Whereas, if they do research and someone comes along later with the same issue they could help with a better life for the future patient. These kind of interactions can change medical research for the better and helping better the future for those patients.
Jesse Coulman
It would definitely be a benefit for the patient and the few other people who carry the rare disease, and could also could also benefit scientists to learn more about how the disease works and why it acts the way it does that could be beneficial in the future. Though the time it would take to find these insights would probably be better served researching diseases that are affecting a larger portion of the population.
Logan Borger
I agree that these interactions have the potential to be positive and have a real impacts. I do believe that there is some gambling aspect of pursuing research and the findings that come along with it. Perhaps it will pay off in the long run. Who can tell?
Jesse Coulman
It doesn’t seem like a realistic way to spend the time and money it would take to research rare diseases like this tat only affect a tiny percent of the population. It sounds bad to say but for medical professionals to do the most amount of good its more beneficial to focus on the diseases that are harming and killing the most amount of people. Though studying these rare diseased could be of benefit in the future by helping scientists understand why these diseases only affect a small percentage of the population and why they affect different people in different ways. Overall I would say the most realistic use of the scientists time would be focusing more on the every day diseases that are harming the population.
Lane Ito
When I started reading The DIY Scientist, the Olympian, and the Mutated Gene, I initially thought the title was referring to one character to fit the title description. However, I did not realize the focus was a single dedicated scientist who studied a unique gene mutation and saved two lives, one being her father, and the other being an Olympic athlete. Afterwards, I began to wonder what other gene mutations are yet to be discovered.
The article talks about Jill Viles, and her studies of the gene mutation Emery-Dreifuss. I personally thought the mutation’s name was a bit strange, and plan to find other mutations with possibly stranger names. This mutation causes a person to become either muscular or slim depending on the gene structure, or by the position of one letter in the gene sequence. What was also surprising was the fact Jill began her research after being dissatisfied with the lack of information from doctors.
“Jill was 25, and a lab director at Johns Hopkins University had heard through the medical grapevine about the young woman who diagnosed her own Emery-Dreifuss. Wanting both a dogged intern and – why not? — a real-life lamin mutant in her lab, the scientist offered Jill a summer internship. Jill’s job was to sift through scientific journals and find any references to diseases that might be caused by a lamin mutation (pg. 212).â€
I understand it is uncommon for a scientist to ask for assistance from a collegue after reading about their discoveries. Prior to this passage, I was astounded to learn how Jill diagnosed her own case of Emery-Dreifuss by studying her family’s genetics. Jill additionally researched muscle disorders in college. In fact, she spent most of her college days in the library reading about Emery-Dreifuss and other muscle diseases.
“She didn’t want to scare anyone in the family, so she didn’t read the papers openly. But one day during break she went to the kitchen to microwave popcorn and returned to find her father perusing the stack of material from her bag. He told her he had all the symptoms she was reading about. “Well, yeah, I know… the arm, and the neck,†Jill told him. No, he replied, all the cardiac symptoms (pg. 209).â€
“In other words, Jill had once again helped steer someone away from a medical disaster. She had prolonged her dad’s life, and now — once again with that cutting-edge medical tool Google Images — she caused the most intense medical intervention that a professional athlete ever had. Priscilla called Jill to tell her. “I was like, “You pretty much just saved me from having to go to the hospital!â€â€ Priscilla says. “Dr. Garg told me I have the gene and my numbers are out of the roof†(pg. 218).â€
The previous two passages emphasize on how Jill’s studies have saved her father and Priscilla from suffering dire consequences. After Jill’s father was diagnosed and given the treatment for his heart problem, his lifetime was extended to 63 years of age. Additionally, Jill saved Priscilla from sustaining metabolic abnormalities from too much runner’s cholesterol, even though Priscilla was physically fit. I find it astonishing how one person who studied multiple gene mutations relating to the muscles was able to save two lives with few difficulties.
In my opinion, Jill Viles was one of the best known DIY scientists who ever lived, and even though her body was starting to wear out due to normal aging, she continues her studies and passing them on to other scientists of the future. I also wonder if there are other genetic mutations with names as bizarre as Emery-Dreifuss. I hope future scientists whose specialty is gene mutations will be as successful as Jill Viles was, and share their findings with the next generation.
Sophie Zhang
Diagnosis of rare diseases remains to be a hindrance to their treatments in many parts of the world. The reason behind this situation is because very few people are willing to dedicate their time and money towards the realization of a solution to rare mutation related conditions. More so, there is a reluctance on the part of the patients to dedicate themselves in ensuring that the genetics behind the disease is known. However, one such patient defied all those odds. The commitment of Jill Viles towards getting a solution to the muscular dystrophy condition that she suffers from has seen her made a notable step into bringing the world together in addressing it.
Through the writings of David Epstein in the book, The DIY Scientist, the Olympian, and the Mutated Gene, Jill explains her journey with this rare condition and interactions with an Olympics star who also has muscular dystrophy but in a different manner. To the world, this book is a revelation of how many people can elicit significant scientific inventions if only they are willing to take such a bold step as Jill. By comparing herself to Priscilla Lopes-Schliep, Jill brings another dimension into how people can work from their weaknesses and bring about enormous changes in how certain conditions, as well as diseases, are viewed.
If Jill just shied off and accepted her muscle loss as an incurable terminal condition, what has been achieved so far would be still a dream. Such an approach is realistic in my opinion and one of the cardinal ways in which genetics as a whole can improve if everyone takes upon themselves to unearth the reasons behind why certain conditions occur. Jill also proves that this is all practical given that she did the research all by herself primarily without the input of anyone else. With a geneticist having taken an interest in the issue, the future of muscular dystrophy is bright. Taking a similar approach to addressing other rare conditions is essential in finding ways to manoeuvre other thousands that have long been ignored.
Lindsey Paulsen
To be born with an uncommon medical issue, and for it to go undiagnosed, would be terrifying. Illnesses like these are sad, and when I hear stories like Jill’s or Priscilla’s, I automatically think that scientists and medical professionals should be doing whatever they can to find a cure or produce a treatment. But sadly, it is not realistic to put as much money as they would need into research on a disease that only effects so little people.
I think scientists/medical professionals and patients should interact and intercept like this more often. I think it would do the medical field some good and most likely increase passion and understanding in the medical field. It could benefit professionals with information and give the scientists a better picture on what they’re working on, as well as more insight into the daily lives of those they are working for.
Logan Borger
Perhaps it may be the dream of rare disease patients to have a personalized scientist, but this just isn’t realistic. In certain cases, where the scientists know about the diseases and are able to come up with explanations, it could potentially be a good use of their time. It would be especially beneficial if more people could be helped by their findings. A good starting place would just be a network within the medical community so that patients will always be able to become connected with those who may be able to diagnose and potentially treat their disease. These interactions, as sparse as they may be, have the capacity to improve many lives by increasing our knowledge about certain ailments and their causes.
Travis Winterton
I believe in some sort of wired cosmic irony, I think is very luck to have a scientist and doctors listen to her despite her previous multiple rejections, and it seem like a miracle that she was able to single handled self-diagnose her own disease where many professional couldn’t (and at an extremely young age no less). I think in a way, this essay sort of demonstrates the core idea of science, about the idea of self interest and personal discovery. While I think it’s amazing to see so many people interested in Jill unique medical condition, I don’t believe that it is a realistic expectation for these types of intersecting relationships between scientist and patient/the individual to become common place.
This is mainly due to priorities, and how there are objectionably more valuable areas of study and research that resources can be directed to that will benefit much more people on a global level rather than focus on a rare disease that only affects a handful of people. Jill’s case I felt personally was an exception as not many people (or at least I think not as my) would put in the time and dedication into self-diagnoses especially to the level in which Jill has done for her condition. It was also perhaps a case of pure luck that she managed to find a research team in a foreign country studying the exact same condition as Jill, and accepted her DNA to be sequence, during a time where genome sequencing was an extremely time consumer ordeal.
While not all patients of these disease can have the same special treatment like Jill, people who have these rare disease can still find ways to have open dialogue about it and discussions as well as share findings, like in the case of Heidi Rehm discover about Norrie disease though a message board, or in simply having a discussions with their doctors. Reading this essay reminded me a lot in one of our previous articles about sky gazing, how armature star watcher are the ones responsible for some of the most major discoveries whiten the past year or so. I feel like that there is a similar sentiment here with how essentially armature doctors (or people with alot of free time on there hands) could potentially be the ones that will soon help in assisting in the learning and discovery of rare diseases and abnormalities.
Ashley Bolyard
One may say putting all their resources to research two people would be a waste of resources. I do not agree with that statement because one’s research could lead to many more revelations patients that may have the same issue or something similar. Like previously discussed in Unit 1 and unit 3, it is unknown if how helpful information will be to another researcher, but one’s discovery could lead to another that may be life-changing. And in this particular situation, it is fascinating how two people with the same gene mutation can be affected differently. That in itself is worth investigating further.